Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D1080N
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BRCA2

NM_000059.4:p.D1080N

Associated Papers

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

Kharel S et al.

The Journal of International Medical Research, 2022

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table2.xlsx › EGFR

Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.

Mazzotta M et al.

Journal for Immunotherapy of Cancer, 2020

32759236 (PubMed )
Supplement: jitc-2020-000946supp001.xlsx › all_prediction_score_merged

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s004.xlsx › BRCA1

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

26848529 (PubMed )
Supplement: oncotarget-07-9600-s002.xlsx › Sheet1

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

Minucci A et al.

Expert Review of Molecular Diagnostics, 2015

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

Dobričić J et al.

Journal of Human Genetics, 2013

BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.

Stordal B et al.

Molecular Oncology, 2013

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM et al.

Human Mutation, 2012

The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified.

Li WF et al.

Breast Cancer Research and Treatment, 2008

[BRCA1 germ line mutations in Chinese early-onset breast cancer patients].

Li WF et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

[5589del8: the recurrent mutation of BRCA1 gene in Chinese breast cancer patients].

Hu Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

[BRCA1 1100delAT is a recurrent mutation in Chinese women with familial breast cancer].

Li WF et al.

Zhonghua Yi Xue Za Zhi, 2007

Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer.

Belogianni I et al.

Bmc Cancer, 2004

[Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people].

Zhou YZ et al.

Zhonghua Yi Xue Za Zhi, 2004

Identification of specific BRCA1 and BRCA2 variants by DHPLC.

Gross E et al.

Human Mutation, 2000

A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers.

Arnold N et al.

Human Mutation, 1999

BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history.

Malone KE et al.

Jama, 1998

A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC.

Gross E et al.

Human Genetics, 0

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